Annotation Detail
Information
- Associated Genes
- RNF213 RNF213-AS1
- Associated Variants
-
RNF213 p.Arg4859Lys (p.R4859K)
(
ENST00000582970.6,
ENST00000508628.6 )
RNF213 p.Arg4859Lys (p.R4859K) ( ENST00000508628.6, ENST00000582970.6 ) - Associated Disease
- Moyamoya disease 2
- Source Database
- ClinVar
- Description
- NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) AND Moyamoya disease 2
- ClinVar Allele ID
- 48299
- ClinVar RefSeq Alternation Syntax
- NM_001256071.3:c.14429G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-07-26
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032902
- ClinVar Disease
- Moyamoya disease 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 22931863
- Pubmed
- 21048783
- Pubmed
- 27515544
- Pubmed
- 22377813
- Pubmed
- 21799892
Drugs